Canonical Allele Identifier: PA645430423
Gene: ACVRL1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000011.2:p.Ser462Ter
NM_000020.3:c.1385C>A

NM_000020.3:c.1385C>G